Y358S (p.Tyr358Ser) variant of SLC22A5 (O76082)
Y358S (p.Tyr358Ser) in SLC22A5 (O76082) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Renal carnitine transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
Y358S (p.Tyr358Ser) variant details
- p.Tyr358Ser
- rs1266953756
- ClinGen CA360807438
- ClinVar RCV001048784
- TOPMed rs1266953756
- Uncertain significance
- Renal carnitine transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.91
- AlphaMissense 0.92
- MetaLR 0.77
- MetaSVM 0.77
- CADD 28.70
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Renal carnitine transport defect)
- EBI: Variant of uncertain significance (in CDSP)
- UniProt: Uncertain significance (in CDSP)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Primary Carnitine Deficiency. (PMID 22420015)